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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder
Molecular Human Reproduction, Volume 13, No. 9, Year 2007
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Description
Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the deletion, the monosomy 9p syndrome. We have previously noted that some cases of 46,XY gonadal dysgenesis carry a 9p deletion and exhibit behavioural problems consistent with autistic spectrum disorder. These cases had a small terminal deletion of 9p with limited or no somatic anomalies that are characteristic of the monosomy 9p syndrome. Here, we present a new case of 46,XY partial gonadal dysgenesis and autistic spectrum disorder associated with a de novo deletion of 9p24 that was detected by ultra-high resolution oligo microarray comparative genomic hybridization. The deletion included the candidate sex-determining genes in the region DMRT1 and DMRT3. These data suggest that a gene responsible for autistic spectrum disorder is located within 9p24. It remains to be determined if the gonadal dysgenesis and autistic spectrum disorder are caused by a single gene or if they are caused by distinct genetic entities at 9p24. © The Author 2007.
Authors & Co-Authors
Vinci, Giovanna
France, Paris
Institut Pasteur, Paris
Chantot-Bastaraud, Sandra
France, Paris
Institut Pasteur, Paris
France, Paris
Hôpital Tenon
El Houate, B.
France, Paris
Institut Pasteur, Paris
Morocco, Casablanca
Institut Pasteur du Maroc
Lortat-Jacob, Stéphen L.
France, Paris
Hôpital Necker Enfants Malades
Brauner, Raja
France, Le Kremlin-bicetre
Hopital de Bicetre
McElreavey, Ken D.
France, Paris
Institut Pasteur, Paris
Statistics
Citations: 69
Authors: 6
Affiliations: 5
Identifiers
Doi:
10.1093/molehr/gam045
ISSN:
13609947
e-ISSN:
14602407
Research Areas
Genetics And Genomics